Varaico: Literature-Extracted Genetic Variants

RBP3

209 papers

RefSeq Summary

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and...

Pfam Domains

Peptidase_S41_Naa 19–127UCSCN-terminal domain of Peptidase_S41 in eukaryotic IRBP

Peptidase_S41aa 129–305UCSCPeptidase family S41

Peptidase_S41_Naa 309–436UCSCN-terminal domain of Peptidase_S41 in eukaryotic IRBP

Peptidase_S41aa 438–617UCSCPeptidase family S41

Peptidase_S41_Naa 619–740UCSCN-terminal domain of Peptidase_S41 in eukaryotic IRBP

Peptidase_S41aa 742–918UCSCPeptidase family S41

Gene Aliases

HGNC Name

retinol binding protein 3

HGNC Alias Symbols

D10S64; D10S65; D10S66; RP66; IRBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002900.3

p.Q627H

c.1881G>C

Surrounding Variants

1 paper

NM_002900.3

p.Q627H

c.1881G>T

1 paper

NM_002900.3

p.E628K

c.1882G>A

1 paper

NM_002900.3

p.V629V

c.1887G>A

1 paper

NM_002900.3

p.E620K

c.1858G>A

1 paper

NM_002900.3

p.V640V

c.1920G>A

2 papers

NM_002900.3

p.E641D

c.1923G>C

2 papers

NM_002900.3

p.E641D

c.1923G>T

1 paper

NM_002900.3

p.H602H

c.1806C>T

1 paper

NM_002900.3

p.I599V

c.1795A>G

1 paper

NM_002900.3

p.V657M

c.1969G>A

1 paper

NM_002900.3

p.V593L

c.1777G>C

1 paper

NM_002900.3

p.V593L

c.1777G>T